MEFV gene mutations in children with Henoch –Schönlein purpura and their correlations—do mutations matter?

ConclusionHenoch –Schönlein purpura in patients with homozygous exon 10MEFV mutations seems to be more severe than that in patients carrying other mutations. In patients with exon 10MEFV mutations, Henoch –Schönlein purpura might be considered as an associated presentation of familial Mediterranean fever rather than a separate clinical entity.Key points•p.M694V mutation is more common in Henoch –Schönlein purpura than in the general population.•p.E148Q variants have no impact on clinical symptoms and laboratory findings in Henoch –Schönlein purpura patients.•The majority of Henoch –Schönlein purpura patients with familial Mediterranean fever have no IgA deposits.•Henoch –Schönlein purpura in familial Mediterranean fever patients may be considered as an integral clinical feature of familial Mediterranean fever.
Source: Clinical Rheumatology - Category: Rheumatology Source Type: research